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Long QT Syndrome

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by

Fiona Dunn

on 27 February 2014

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Transcript of Long QT Syndrome

How can it be Treated?
Although there is no cure, there are many treatment options, varying on the type of LQTS
Example of a LQTS Patient
Who Discovered it?
An EKG/ECG shows your heart's electrical activity
Silent Long QT Syndrome
very dangerous
sudden cardiac arrest
sudden death
Long QT Syndrome

Implantable Devices
pacemaker
internal defibrillator
beta blockers
consuming more potassium
avoiding medicines that may side effect in abnormal heart rhythms
Holter Monitor
What is it?
LQTS is a gene mutation that causes a disorder of the heart's electrical activity
How is it Diagnosed?
An ECG machine

genetic blood sampling

LQTS signs & symptoms:
fainting while swimming
erratic heart arrhythmias
fainting
sudden cardiac arrest
apparent breathing struggles while sleeping
Romano-Ward Syndrome
Jervell and Lange-Nielsen

Types of Long QT
The inherited form of the syndrome has two types,it can be dominant or recessive:
In Long QT, the QT interval of the heartbeat is longer
the heart contracts
:
a polarized cell in the heart sends a message for ions to move across the cardiac cell membranes (
depolarization
)

the heart relaxes:
then the ions move back through the channels to their previous resting place, bringing electrical activity back into the cell (
repolarization
)

In long QT, the gene that codes for the ion channels is mutated, causing repolarization to take longer
Autosomal Recessive
Autosomal Dominant
1st case=1856
Friedrich Ludwig Meissner
1st electrocardiographic features=1953
Dr. Moller
recessive form=1956
Anton Jervell & Fred Lange-Nielson
dominant form=1963
Romano and O. Connor Ward
Depolarization & Repolarization
LQTS Forms
LQT 1
:triggered by physical or emotional stress

LQT 2
:triggered by mental stress or noise

LQT 3
:triggered by a slow heart rate during sleep
Gene Mutation
There is not just one gene involved in Long QT Syndrome
Helpful Lifestyle Tips
KCNE1 forms potassium channels
R518x forms other ion channels

Each form of the dominant LQTS has a different gene mutation
KCNQ1 Gene
Heterozygous mutation causes dominant long qt: Romano-Ward

mutation=frameshift
Jervell Lange-Nielsen Punnet Squares
J
J
j
j
Jj
Jj
Jj
Jj
100% Long QT Carrier
j
j
J
j
Jj
Jj
jj
50% have Long QT
50% carriers
50% homozygous recessive
50% heterozygous
100% heterozygous
Romano-Ward Punnet Squares
jj=has LQTS
Jj=carrier
JJ=doesn't have LQTS
R
R
r
r
Rr
Rr
Rr
Rr
100% Long QT carrier
100% Heterozygous
50% have Long QT
50% Carrier
R
R
R
r
RR
RR
Rr
Rr
50% Homozygous Dominant
50% Heterozygous
jj
RR=has Long QT
Rr=carries Long QT
rr= doesn't have Long QT

KCNQ1 is in a gene family
potassium channel instructions
KCNQ1=structure of channels
KCNE=regulates channel activity

Homozygous mutation causes recessive long qt: Jervell Lange-Nielson

mutation=inversions
Where is the KCNQ1 Gene?
chromosome 11
bases 2,444,990 to 2,849,109
Structure-Function


change in gene's amino acid sequence = inability for potassium ions to pass through channels
(Jervell Lange-Nielsen in inner ear)
Bibliography
“Functional Genomics of Cardiac Ion Channel Genes.” Cardiovascular Research. Oxford Journals, n.d. Web. 22 Feb. 2014. <http://cardiovascres.oxfordjournals.org/content/67/3/438.full>.

“History of Long QT Syndrome Timeline.” QT Syndrome. QT Syndrome, n.d. Web. 22 Feb. 2014. <http://www.qtsyndrome.ch/history.html>.

“Long QT Syndrome.” Mayo Clinic. Mayo Clinic, n.d. Web. 22 Feb. 2014. <http://www.mayoclinic.org/diseases-conditions/long-qt-syndrome/basics/definition/CON-20025388>.

“Long QT Syndrome.” National Heart, Blood and Lung Institute. U.S. Department of Health & Human Services, n.d. Web. 31 Jan. 2014. <https://www.nhlbi.nih.gov/health/health-topics/topics/qt/>.

“Long QT Syndrome.” SADS Foundations. SCAC, n.d. Web. 31 Jan. 2014. <http://www.sads.org/What-is-SADS/Long-QT-Syndrome#.UuxxXfldWSo>.

“Spectrum of Mutations in long-QT Genes.” Pubmed.gov. US National Library of Medicine, n.d. Web. 22 Feb. 2014. <http://www.ncbi.nlm.nih.gov/pubmed/10973849>.

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